Sphingomyelin 16:0 is a therapeutic target for neuronal death in acid sphingomyelinase deficiency

Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disorder caused by mutations in the SMPD1 gene encoding for the acid sphingomyelinase (ASM). While intravenous infusion of recombinant ASM is an effective treatment for the peripheral disease, the neurological complications of ASMD remai...

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Detalles Bibliográficos
Autores principales: Gaudioso, Ángel, Jiang, Xuntian, Casas, Josefina, Schuchman, Edward H., Ledesma, María Dolores
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10079961/
https://www.ncbi.nlm.nih.gov/pubmed/37024473
http://dx.doi.org/10.1038/s41419-023-05784-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10079961/
https://www.ncbi.nlm.nih.gov/pubmed/37024473
http://dx.doi.org/10.1038/s41419-023-05784-2

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